• Genomics & Informatics
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• v.12 no.4
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• pp.289-292
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• 2014

Next-generation sequencing (NGS) is widely used to identify the causative mutations underlying diverse human diseases, including cancers, which can be useful for discovering the diagnostic and therapeutic targets. Currently, a number of single-nucleotide variant (SNV)-calling algorithms are available; however, there is no tool for visualizing the recurrent and phenotype-specific mutations for general researchers. In this study, in order to support defining the recurrent mutations or phenotype-specific mutations from NGS data of a group of cancers with diverse phenotypes, we aimed to develop a user-friendly tool, named mutation arranger for defining phenotype-related SNV (MAP). MAP is a user-friendly program with multiple functions that supports the determination of recurrent or phenotype-specific mutations and provides graphic illustration images to the users. Its operation environment, the Microsoft Windows environment, enables more researchers who cannot operate Linux to define clinically meaningful mutations with NGS data from cancer cohorts.

• Journal of Animal Science and Technology
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• v.64 no.5
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• pp.830-841
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• 2022

Genetic analysis has great potential as a tool to differentiate between different species and breeds of livestock. In this study, the optimal combinations of single nucleotide polymorphism (SNP) markers for discriminating the Yeonsan Ogye chicken (Gallus gallus domesticus) breed were identified using high-density 600K SNP array data. In 3,904 individuals from 198 chicken breeds, SNP markers specific to the target population were discovered through a case-control genome-wide association study (GWAS) and filtered out based on the linkage disequilibrium blocks. Significant SNP markers were selected by feature selection applying two machine learning algorithms: Random Forest (RF) and AdaBoost (AB). Using a machine learning approach, the 38 (RF) and 43 (AB) optimal SNP marker combinations for the Yeonsan Ogye chicken population demonstrated 100% accuracy. Hence, the GWAS and machine learning models used in this study can be efficiently utilized to identify the optimal combination of markers for discriminating target populations using multiple SNP markers.

• Animal Bioscience
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• v.37 no.4
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• pp.600-608
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• 2024

Objective: In this study, we aimed to evaluate the usability single nucleotide polymorphisms (SNPs) for parentage testing of horse breeds in Korea. Methods: The genotypes of 93 horse samples (38 Thoroughbred horses, 17 Jeju horses, 20 Quarter horses, and 18 American miniature horses) were determined using 15 microsatellite (Ms) markers (AHT4, AHT5, ASB2, ASB17, ASB23, CA425, HMS1, HMS2, HMS3, HMS6, HMS7, HTG4, HTG10, LEX3, and VHL20) and 101 SNP markers. Results: Paternity tests were performed using 15 Ms markers and 101 SNP markers in Thoroughbred horses and Quarter horses. AHT5, ASB2, ASB17, ASB23, CA425, HMS7, HTG10, and LEX3 did not follow Mendelian inheritance in Thoroughbred horses, whereas in Quarter horses, only AHT4, ASB2, and HMS2 showed Mendelian inheritance, consequently, paternity was not established. Meanwhile, 31 markers, including MNEc_2_2_2_98568918_BIEC2_502451, in Thoroughbred horses, and 30 markers, including MNEc_2_30_7430735_BIEC2_816793, in Quarter horses did not conform with Mendelian inheritance and therefore, could not be used for establishing parentage. Conclusion: The possibility of replacing Ms markers with SNP markers for paternity testing in horses was confirmed. However, further research using more samples is necessary.

• Journal of Life Science
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• v.30 no.7
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• pp.614-624
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• 2020

The recent development of next-generation sequencing technology has enabled increased genomic analysis, but very few single nucleotide polymorphism (SNP) markers applicable to sweet persimmon (Diospyros kaki Thunb.) cultivars have been identified. In this study, SNP primers developed from five pollination-constant astringent (PCA) persimmons native to Korea were applied to discriminate between cultivars and verify their usability. The polymerase chain reactions of 19 SNP primers developed by Jung et al. were checked, with 11 primers finally selected. The other eight were very difficult to analyze in the agarose gel electrophoresis and QIAxcel Advanced System used in this experiment and were therefore excluded. The 11 SNP primers were applied through first and second verification to 76 cultivars and collection lines including 20 pollination-variant non-astringent (PVNA), 30 pollination-constant non-astringent (PCNA), 20 PCA, and six pollination-variant astringent (PVA). Of these, 38 were indistinguishable (eight PVNA, 18 PCNA, nine PCA, and three PVA). However, the results of applying the 11 SNP primers to new sweet persimmon cultivars, namely Gamnuri, Dannuri, Hongchoo, Jamisi, and Migamjosaeng, showed that they have the potential to be used as a unique marker for simultaneously determining between them.

• Proceedings of the Korean Society of Sericultural Science Conference
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• 2003.10a
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• pp.23-23
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• 2003

We made use of 81, 635 expressed sequence tags (ESTs) derived from 12 different cDNA libraries of Bombyx mori to identify high-quality candidate single nucleotide polymorphisms (SNPs). By PHRAP assembling, we obtained 12, 980 contigs containing 11, 531 contigs assembled by more than one reads. From 117 contig sequences, which were assembled by 1, 576 high-quality reads base-called with PHRED, we identified 101 candidate SNPs and 27 single base insertions/deletions based on a neighborhood quality standard(NQS) of SNP. (omitted)

• Korean Journal of Microbiology
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• v.26 no.3
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• pp.155-161
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• 1988

Nucleotide sequence homology between bovine, simian, and porcine rotavirus was determined by the RNA:RNA hybridization technique. Single stranded RNA, prepared in vitro with EDTA activated endogeneous viral RNA polymerase, was hhbridized with tritium labeled bovine rotavirus genomic RNA. The heteroduplex RNA was treated with single stranded RNA specific ribonucleases and the RNase resistant hybrid RNA was precipitated, and collected by filtration on a filter paper. Seventy four percent RNA sequence homology between bovine and simian rotavirus and 8 percent RNA sequence homology between bovine and porcine rotavirus was confirmed by hybridization between tritium labeled single stranded RNA and viral genomic RNA.

• Proceedings of the Korean Information Science Society Conference
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• 2002.04b
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• pp.160-162
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• 2002

SNP는 개인과 개인간의 DNA에 존재하는 한 염기 쌍의 차이(single base-pair variation)이다. SNP를 이용하면 사람마다 다른 유전병의 형태 등을 규명할 수 있다. 본 논문에서는 한국생명공학연구원의 유전체 사업단에서 개발해 오고 있는 웹기반 SNP데이터 검색 시스템의 설계와 구현에 대해서 설명한다. 본 시스템은 일반 속성(attribute)을 저장하고 검색하기 위해 PostgreSQL DBMS를 사용하고, DNA 시퀸스 검색을 위해 BLAST검색엔진을 사용한 약결합 아키텍쳐(loosely-coupled architecture)를 채택하고 있다. 즉, 일반 속성으로 저장될 수 있는 데이터들은 데이터베이스의 테이블들의 컬럼 값으로 저장하고 SQL 언어를 통해 검색할 수 있도록 하였으며, DNA 시퀸스 검색을 위해서는 BLAST에서 제공하는 인덱스를 구축하고 BLAST 명령어를 사용하여 검색할 수 있도록 하였다. 또한, 결과 분석 모듈을 구현하여 검색 결과들이 다른 웹 사이트의 데이터를 가리키도록 하였다.

• Proceedings of the Korean Society of Toxicology Conference
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• 2000.11a
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• pp.167-189
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• 2000

• Proceedings of the Zoological Society Korea Conference
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• 2000.04a
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• pp.86.2-86
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• 2000

No Abstract, See Full Text

• The Korea Genome Conference
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• 2002.08a
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• pp.45-45
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• 2002